Pinz Hailey, Pyle Louise C, Li Dong, Izumi Kosuke, Skraban Cara, Tarpinian Jennifer, Braddock Stephen R, Telegrafi Aida, Monaghan Kristin G, Zackai Elaine, Bhoj Elizabeth J
Divisionof Medical Genetics, Department of Pediatrics, Saint Louis University School of Medicine, Saint Louis, Missouri.
Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Am J Med Genet A. 2018 Apr;176(4):969-972. doi: 10.1002/ajmg.a.38620. Epub 2018 Feb 15.
Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of the expression of myelin-related genes. However, it is highly expressed in human tissues and mouse embryonic tissues outside the nervous system such as the stomach, lung, and small intestine. It has not previously been reported as a cause of any Mendelian disease. We report here two males with Scimitar syndrome [MIM 106700], and other features including penoscrotal hypospadias, cryptorchidism, pulmonary hypoplasia, tracheal anomalies, congenital diaphragmatic hernia, cleft spleen, thymic involution, and thyroid fibrosis. Gross neurologic functioning appears to be within normal limits. In both individuals a de novo variant in MYRF was identified using exome sequencing. Neither variant is found in gnomAD. Heterozygous variants in MYRF should be considered in patients with variants of Scimitar syndrome and urogenital anomalies.
髓磷脂调节因子（MYRF）是一种转录因子，此前已被认为与髓磷脂相关基因的表达调控有关。然而，它在神经系统以外的人体组织和小鼠胚胎组织中高度表达，如胃、肺和小肠。此前尚未有报道称其为任何孟德尔疾病的病因。我们在此报告两名患有弯刀综合征[MIM 106700]的男性，以及其他特征，包括阴茎阴囊型尿道下裂、隐睾、肺发育不全、气管异常、先天性膈疝、脾脏裂开、胸腺退化和甲状腺纤维化。总体神经功能似乎在正常范围内。通过外显子组测序在两名患者中均鉴定出MYRF的一个新生变异。在gnomAD中均未发现这两个变异。对于患有弯刀综合征和泌尿生殖系统异常变异的患者，应考虑MYRF的杂合变异。
